Lamellar Ichthyosis

Diagnosis: Lamellar Ichthyosis

Ectropion associated with widespread, thick, polygonal scales of lamellar ichthyosis.

Clinical Presentation

Ectropion associated with widespread, thick, polygonal scales of lamellar ichthyosis.

Clinical History

Submitted by Alaa Saad. Originally posted September 17, 2010.

Treatment

See case discussion.

Differential Diagnosis

• Congenital ichthyosiform erythroderma • X-linked ichthyosis • Ichthyosis vulgaris • Netherton syndrome • Harlequin ichthyosis • Sjögren-Larsson syndrome

Key Learnings

• Autosomal recessive — most commonly caused by TGM1 (transglutaminase 1) mutation • Often presents as collodion baby at birth • Large, dark, plate-like scales covering entire body — "armor-like" • Cicatricial ectropion and eclabion are common • No erythroderma (distinguishes from congenital ichthyosiform erythroderma) • Heat intolerance due to impaired sweating (occluded eccrine ducts)

Tags: lamellar, ichthyosis, alaa saad